SCID
Gene: ZAP70

ZAP70 (zeta chain of T-cell receptor associated protein kinase 70)
EnsemblGeneIds (GRCh38): ENSG00000115085
EnsemblGeneIds (GRCh37): ENSG00000115085
OMIM: 176947, Gene2Phenotype
ZAP70 is in 4 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to agreement from 3 reviewers.
Created: 20 May 2016, 2:13 p.m.

Created: 20 May 2016, 2:13 p.m.

Panel version: 0.29

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Severe Combined Immune Deficiency
Selective T-cell defect

OMIM

176947

Clinvar variants

Variants in ZAP70

Penetrance

Complete

Panels with this gene